General Flashcards
(137 cards)
When examining inherited differences in drug responses, what two factors should be considered?
drug efficacy and adverse drug reactions
Three main types of RNA are involved in protein synthesis.
They aremessenger RNA (mRNA), transfer RNA (tRNA), and ribosomal RNA (rRNA). rRNA forms ribosomes, which are essential in protein synthesis.
Nondisjunction
Is the failure of the chromosomes to separate, which produces daughter cells with abnormal numbers of chromosomes.
What is cohesin?
A protein glue that holds the daughter chromosomes together.
Symptoms of cystic fibrosis include:
recurring chest infections
wheezing, coughing, shortness of breath and damage to the airways (bronchiectasis)
difficulty putting on weight and growing
yellowing of the skin and the whites of the eyes (jaundice)
diarrhoea, constipation, or large, smelly poo
a bowel obstruction in newborn babies (meconium ileus) – surgery may be needed
Gene regulation is complex…
genes can be regulated at many points
1.Transcription
2.post-transcription
3. post-translational
Measuring gene expression levels
-quantitive PCR - good for 10-100s genes
-microarray - good for thousands of genes
-RNAseq - good for assaying the entire genome
What are daughter chromosomes?
The chromosomes that result from replication.
What 2 things occur in Prophase of mitosis
1) The nuclear membrane breaks apart.
2) Proteins package the paired chromosomes into shorter and thicker rods (CONDENSATION).
What is condensation, in terms of protein involvement?
Proteins package chromosomes into shorter thicker rods.
Symptoms of cystic fibrosis include:
-recurring chest infections
-wheezing, coughing, shortness of breath and damage to the airways (bronchiectasis)
-difficulty putting on weight and growing
-yellowing of the skin and the whites of the eyes (jaundice)
-diarrhoea, constipation, or large, smelly poo
-a bowel obstruction in newborn babies (meconium ileus) – surgery may be needed
A BCR-ABL1 genetic test
uses a sample of blood or bone marrow to look for an abnormal gene called BCR-ABL1. This abnormal gene is involved in certain types of blood cancer. It’s found in: Most people who have chronic myeloid leukemia (CML), which is also called chronic granulocytic leukemia or chronic myeloid leukemia.
Huntingtons’s Diease
-dominant
-disruption of brain chemistry which leads to cellular death
-muscular twitching
-emotional disturbances
-chromosome #4 marker
Porphyria
-dominant
-can not metabolize RBC breakdown
-causes neurological problems
-sun exposure can cause skin to blister
Describe the molecular basis for Sickle Cell Anaemia
-SCA is caused by a single DNA mutation, an A to a T in the beta-globin gene
-Glutamate changes to valine in the amino acid chain
Identify the symptoms of Sickle Cell Anaemia
Anaemia
Fever
Severe pain
Sudden death
Describe the treatment for Sickle Cell Anaemia
Treatment usually aimed to limit symptoms and complications
Both beta globin proteins need to be mutated to cause Sickle cell anaemia.
What does this tell us about the disease?
Autosomal recessive inheritance
What is sickle cell trait?
-Sickle cell trait is a milder form of sickle cell anaemia wherein individuals are heterozygous for the mutation.
-Increases resistance to malaria.
Discuss the geographical variation with sickle cell anaemia
-SCA is very rare in non-African populations and common in populations with African ancestry
-Similarity in distribution across populations with malaria endemicity
What is epigenetics?
Epigeneticsis the study of heritable changes in gene expression that does not involve changes to the underlying DNA sequence
What is Huntington’s disease?
Huntington’s Disease in an inherited neurodegenerative disease, involving the death of brain cells
Identify 4 symptoms of Huntington’s Disease
-Seizures
-Abnormal gait
-Personality change
-Dementia
Describe the molecular basis for Huntington’s disease
Mutation is a short tandem repeat (STR)